ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2424C>T (p.Thr808=)

gnomAD frequency: 0.00001  dbSNP: rs769860534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394981 SCV001596679 likely benign Glycogen storage disease, type V 2024-01-04 criteria provided, single submitter clinical testing

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